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Selective Screening for Metabolic Disorders in the Slovenian Pediatric Population
Barbka Repič Lampret1, Simona Murko1, Mojca Žerjav Tanšek2
1Unit for Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Slovenia.
Insights
Selective screening aids in diagnosing inborn errors of metabolism (IEM), rare genetic disorders impacting child health. Slovenia
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Inborn errors of metabolism (IEM) are rare genetic disorders caused by enzyme defects, leading to significant childhood morbidity and mortality.
- Early diagnosis of IEM is crucial for preventing severe complications and improving patient outcomes.
- Selective screening plays a vital role in the timely diagnosis of IEM.
Purpose of the Study:
- To outline the diagnostic approaches and current patient registry for inborn errors of metabolism in Slovenia.
- To assess the current status of IEM diagnosis and management within the Slovenian healthcare system.
Main Methods:
- Symptomatic patients with suspected IEM are referred to the University Children's Hospital Ljubljana for diagnosis.
- Diagnostic techniques include gas chromatography-mass spectrometry, ion exchange chromatography-post-column derivatization, liquid chromatography-tandem mass spectrometry, isoelectric focusing, and fluorimetric enzyme activity measurement.
- Data on diagnosed IEM cases are maintained in the Slovenian Register for Rare Diseases.
Main Results:
- The Slovenian Register for Rare Diseases includes 168 patients with amino and organic acidemias, 5 with fatty acid metabolism disorders, 1 with congenital glycosylation disorder, 42 with Fabry disease, and 20 with Gaucher disease.
- A significant number of adult patients with Fabry and Gaucher disease are noted in the registry.
Conclusions:
- Patient management for IEM in Slovenia is centralized at the University Children's Hospital, with specific exceptions for adult Fabry and Gaucher disease patients.
- Organized teamwork and close collaboration between laboratories and pediatricians specialized in metabolic disorders characterize the management approach.
- The study anticipates a potential need for expanded newborn screening, as current results are lower than expected based on literature frequencies, prompting plans for a pilot study.
Background:
Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a group they account for a significant proportion of newborn and childhood morbidity and mortality. Early diagnosis is important to prevent complications or even death of the child. Selective screening is an important diagnostic tool for the diagnosis of IEM.
Methods:
In Slovenia, symptomatic patients with suspected IEM are referred to the University Children's Hospital Ljubljana. Techniques used for selective screening are gas chromatography-mass spectrometry, ion exchange chromatography-post-column derivatization, liquid chromatography-tandem mass spectrometry and isoelectric focusing. Fluorimetric method is used for enzyme activity measurement.
Results:
There are 168 patients with amino and organic acidemias, 5 patients with disorders in fatty acids metabolism, 1 patient with a congenital disorder of glycosylation, 42 patients with Fabry disease (of which 37 are adult) and 20 patients with Gaucher disease (of which 18 are adult) in the Slovenian Register for Rare Diseases.
Conclusions:
In Slovenia, management of patients with IEM is centralized at the University Children's Hospital, with the exception of adult patients with Fabry and Gaucher disease. The team work is well organized with close cooperation between the laboratory and pediatricians specialized in metabolic disorders. According to the known frequencies of IEM from the literature, we would expect more positive results than obtained. To evaluate these results, we are planning to perform a pilot study on expanded newborn screening.
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